Recruiting
Who can join AIPeople with Fabry disease.
What is being studied AITests a 12-week physiotherapy exercise program's effects on fitness, strength, and quality of life.
Study typeTreatment (other)
CountriesCzechia
Fabry Disease
Browse recruiting and upcoming clinical trials for Fabry disease.
Patient-friendly, AI-assisted summaries based on official ClinicalTrials.gov ↗ records. Last updated: Oct 10, 2026
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ClinicalTrials.gov is the complete and most up-to-date source. Trials may be missing, and trial information may have changed since our last check. Always verify important information in the official registry.
Recruiting
Who can join AIChildren aged 2 to <12 years with Fabry disease and an amenable GLA variant.
What is being studied AITests safety, drug levels (PK/PD), and clinical effects of migalastat in children with Fabry disease.
Study typeTreatment (drug) · Phase 3
CountriesBelgium, Germany, Japan +3
Recruiting
Who can join AIAdults (≥18 years) with a documented diagnosis of Fabry Disesase and clinical symptoms.
What is being studied AITests safety, tolerability, pharmacokinetics and efficacy of HM15421 (subcutaneous) in Fabry disease.
Study typeTreatment (drug) · Phase 1/2
CountriesArgentina, South Korea, United States
Recruiting
Who can join AIPeople aged 7 years and older with genetically confirmed, symptomatic Fabry disease.
What is being studied AITests safety and preliminary efficacy of a single IV dose of EXG110 gene therapy.
Study typeTreatment (drug)
CountriesChina
Recruiting
Who can join AIChildren and adolescents aged 2 to 17 years with a confirmed diagnosis of Fabry disease who meet study criteria.
What is being studied AITests safety, dosing, pharmacokinetics, and effects of PRX-102 in children with Fabry disease.
Study typeTreatment (drug) · Phase 2/3
CountriesAustria, France, Norway +3
Recruiting
Who can join AIAdult males with classic Fabry disease.
What is being studied AITests safety, PK/PD, and exploratory effects of one IV dose of AMT-191.
Study typeTreatment (drug) · Phase 1/2
CountriesUnited States
Recruiting
Who can join AIChildren and adolescents aged ≥7 and <18 years with genetically confirmed Fabry disease and low α‑Gal A levels.
What is being studied AITests safety, tolerability and efficacy of BBM-F101 gene therapy.
Study typeTreatment (drug) · Early Phase 1
CountriesChina
Recruiting
Who can join AIPeople aged 13–70 with a documented diagnosis of Fabry disease.
What is being studied AITests safety, pharmacokinetics, pharmacodynamics, and efficacy of PRX-102 in Japanese Fabry disease patients.
Study typeTreatment (drug) · Phase 2/3
CountriesJapan
Recruiting
Who can join AIAdults (18–65 years) with confirmed Fabry disease who have cardiac involvement.
What is being studied AIAssesses safety, tolerability, and pharmacodynamics of a single IV dose of 4D-310.
Study typeTreatment (drug) · Phase 1/2
CountriesAustralia, Taiwan
Recruiting
Who can join AIPeople of any age with confirmed Fabry disease who have not previously received Replagal and are not enrolled in a free ERT access program.
What is being studied AIEvaluates safety and efficacy of Replagal given every two weeks.
Study typeTreatment (drug) · Phase 4
CountriesIndia
Not yet recruiting
Who can join AIPeople with Fabry disease.
What is being studied AITests lucerastat's effect on kidney Gb3 and its safety in untreated adult men with Fabry disease.
Study typeTreatment (drug) · Phase 3
CountriesNot posted yet
Not yet recruiting
Who can join AIAdults (age ≥18) with Fabry disease who have clinical symptoms and a genetic diagnosis.
What is being studied AITests safety and effects of a single IV dose of EXG110 in Fabry disease.
Study typeTreatment (drug) · Phase 1/2
CountriesChina
Recruiting
Who can join AIAdults (age ≥18) with Fabry disease who are able to undergo MRI.
What is being studied AITests whether cardiac MRI T1 and T2 mapping detects early heart abnormalities in Fabry disease.
Study typeDiagnostic
CountriesCanada
Recruiting
Long Duration Holter ECG in Fabry Disease
NCT04440254
Who can join AIMen aged 18 or older with Fabry disease
What is being studied AITests long-term implantable Holter ECG monitoring for detecting arrhythmias and conduction disorders.
Study typeDiagnostic
CountriesFrance
Recruiting
Who can join AIAdults with Alport syndrome, Fabry disease, tuberous sclerosis complex, SLE with kidney involvement, non-rare CKD, or people without CKD as controls.
What is being studied AICompares periodontal health in rare kidney diseases, CKD controls, and population controls.
Study typeObservational
CountriesRomania
Recruiting
Who can join AIAdults with hypertrophic‑phenotype cardiomyopathies (including sarcomeric and non‑sarcomeric HCM, Anderson‑Fabry, and amyloid), their first‑degree relatives, and genetic carriers.
What is being studied AICompares CMR myocardial perfusion patterns across different hypertrophic cardiomyopathy phenotypes.
Study typeObservational
CountriesItaly
Recruiting
Who can join AIPeople aged 65 and over with Fabry disease — men with proven alpha‑galactosidase A deficiency or a pathogenic GLA variant; women with a pathogenic GLA variant.
What is being studied AICompares quality of life over 5 years in people 65+ with Fabry disease, with or without specific treatment.
Study typeObservational
CountriesFrance
Recruiting
Who can join AIPeople aged 15–75 with genetically confirmed Fabry disease and cardiac involvement who will start or resume agalsidase alfa treatment.
What is being studied AIWhether agalsidase alfa is linked to changes in heart inflammation measured by [18F]-FDG PET‑CMR.
Study typeObservational
CountriesSouth Korea
Recruiting
Who can join AIPeople aged ≥7 with a confirmed diagnosis of Fabry disease who will receive agalsidase alfa enzyme replacement therapy.
What is being studied AICollects real-world data on agalsidase alfa treatment, heart and kidney outcomes, safety, and quality of life.
Study typeObservational
CountriesChina
Recruiting
Who can join AIAdults (≥18) with genetically confirmed Fabry disease who are receiving or plan to start pegunigalsidase alfa treatment.
What is being studied AICollects real-world data on safety and effectiveness of pegunigalsidase alfa in Fabry patients.
Study typeObservational
CountriesItaly
Who can join AIPregnant or breastfeeding women with Fabry disease exposed to pegunigalsidase alfa, and their infants.
What is being studied AICollects pregnancy and infant outcomes after exposure to pegunigalsidase alfa.
Study typeObservational
CountriesGermany, Italy, Spain +2
Recruiting
Who can join AIPeople with a confirmed genetic diagnosis of Anderson‑Fabry disease.
What is being studied AITests the relationship between exercise capacity (CPET) and heart imaging/hemodynamics (echocardiogram, CMR).
Study typeObservational
CountriesItaly
Recruiting
Who can join AIPeople aged 12 and older with cardiomyopathy (including hypertrophic, dilated, arrhythmogenic, cardiac amyloidosis, Fabry, and other forms).
What is being studied AICollects clinical data and analyzes plasma and heart-tissue microRNAs and spatial transcriptomics.
Study typeObservational
CountriesItaly
Recruiting
Who can join AIAdults with a genetically‑verified diagnosis of Fabry disease and age‑ and sex‑matched healthy control volunteers.
What is being studied AITests cardiac inflammation, microvascular function, and fibrosis with CMR, 82Rb-PET/CT, and blood biomarkers.
Study typeObservational
CountriesDenmark
Recruiting
Who can join AIAdults with Fabry disease affecting endothelial function and the retinal microvasculature.
What is being studied AIMeasures retinal vessel function and other cardiovascular and laboratory markers in people with Fabry disease.
Study typeObservational
CountriesGermany
Recruiting
Who can join AIAdults (18+) with genetically confirmed Fabry disease who are taking or plan to take pegunigalsidase alfa (Elfabrio®).
What is being studied AICollects routine-care data on safety and effectiveness of pegunigalsidase alfa (Elfabrio®) in Fabry patients.
Study typeObservational
CountriesSlovenia, United Kingdom, United States
Recruiting
Cardiovascular Multimodality Imaging Study
NCT06610019
Who can join AIAdults (18+) who had a cardiovascular MRI (CMR); includes people with cardiomyopathies and related heart conditions.
What is being studied AIUses CMR and other heart imaging to study causes and risk factors of ischemic and non‑ischemic cardiomyopathies.
Study typeObservational
CountriesUnited States
Recruiting
Who can join AIAdults (age ≥18) with left ventricular wall thickness ≥13 mm and at least two Fabry "warning signs."
What is being studied AICollects cardiovascular imaging and clinical outcome data in people with Fabry cardiomyopathy.
Study typeObservational
CountriesChina
Recruiting
Who can join AIAdults with genetically confirmed Fabry disease (with or without kidney impairment) and healthy adults with normal kidney function.
What is being studied AINon-contrast MRI and blood biomarker tests to study kidney oxygenation, inflammation, and fibrosis.
Study typeObservational
CountriesDenmark
Recruiting
Who can join AIAdults (18+) with a diagnosed Fabry disease who have cardiac signs, abnormal cardiac biomarkers, or abnormal cardiac imaging.
What is being studied AICollects blood biomarkers and cardiac imaging to develop a monitoring assay for Fabry disease.
Study typeObservational
CountriesTaiwan
Recruiting
Who can join AIPregnant or breastfeeding female patients with Fabry disease.
What is being studied AICollects pregnancy and infant outcomes in women with Fabry Disease exposed or unexposed to migalastat.
Study typeObservational
CountriesUnited States
Recruiting
Who can join AIAdults (18+) treated at the Fabry Center Wuerzburg (FAZiT) in Germany, with genetically confirmed Fabry disease, including the cardiac variant or Fabry-associated hypertrophic cardiomyopathy.
What is being studied AICollects long-term data to find predictors of arrhythmias, sudden cardiac death, and heart failure.
Study typeObservational
CountriesGermany
Recruiting
Who can join AIPeople aged 1–75 with Fabry disease who have or will have kidney biopsies and renal function testing.
What is being studied AICollects kidney biopsies and function tests to study structural–functional relationships and changes with ERT
Study typeObservational
CountriesUnited States
Not yet recruiting
Who can join AIAdults (age 18+) diagnosed with Fabry disease, both men and women.
What is being studied AICollects patient questionnaires and medical data to compare diagnostic entry and timing by sex.
Study typeObservational
CountriesFrance
Not yet recruiting
Who can join AIPeople with genetically confirmed Fabry disease who can give informed consent.
What is being studied AIMeasures ascending aortic size from echocardiography and cardiac MRI in adults with Fabry disease.
Study typeObservational
CountriesNot posted yet
Enrolling by invitation
Who can join AIAdults with confirmed Fabry disease who are not currently receiving disease-specific treatment.
What is being studied AICollects patient interviews about quality of life and healthcare experiences.
Study typeObservational
CountriesSweden
Enrolling by invitation
Who can join AIPeople aged 8–65 with confirmed Fabry disease who are prescribed enzyme replacement therapy.
What is being studied AICollects medical data to see how enzyme replacement therapy relates to biomarkers and outcomes.
Study typeObservational
CountriesRussia
Enrolling by invitation
Who can join AINewborn infants under 4 weeks old born at a ScreenPlus pilot hospital, for screening for a panel of rare genetic disorders.
What is being studied AITests newborn blood samples for a flexible panel of rare genetic disorders and follows positives for confirmation.
Study typeObservational
CountriesUnited States
Recruiting
Who can join AIPeople suspected of rare cardiomyopathies (e.g., Danon, Fabry, cardiac amyloidosis, Noonan, cardiac sarcoidosis, glycogen storage disease, idiopathic cardiomyopathy) who had a cardiac MRI.
What is being studied AIAdvanced cardiac magnetic resonance (CMR) biomarkers for diagnosis and risk stratification of rare cardiomyopathies.
Study typeRegistry
CountriesChina
Recruiting
Who can join AIAdults (18+) with Fabry disease.
What is being studied AICollects long-term safety, effectiveness, and quality-of-life data in Fabry disease, focusing on migalastat.
Study typeRegistry
CountriesUnited States
Recruiting
Who can join AIPeople diagnosed with Anderson‑Fabry (Fabry) disease who are age 2 years or older.
What is being studied AICollects clinical and cardiac data to study Fabry disease's course and heart involvement.
Study typeRegistry
CountriesItaly
Who can join AIPatients with suspected or proven non-ischemic cardiomyopathies, including DCM, HCM, RCM, ACM, LVNC, AMVP, PPCM, AFD, and related or undefined forms.
What is being studied AICollects clinical, imaging, genetic, biopsy and treatment data to compare arrhythmic and inflammatory features across NICMs.
Study typeRegistry
CountriesItaly
Recruiting
National Registry of Rare Kidney Diseases
NCT06065852
Who can join AIChildren and people with one of the many rare kidney diseases listed in this registry.
What is being studied AICollects clinical data, patient-reported outcomes, and samples to support research.
Study typeRegistry
CountriesUnited Kingdom
Recruiting
Who can join AIAdults (18+) with clinical or MRI features of cerebral small vessel disease, including Cadasil, HTRA1- or COL4A1-related disease, Fabry disease, or stroke.
What is being studied AICollects clinical data, MRI scans, and gene sequencing to compare genetic vs non-genetic CSVD.
Study typeRegistry
CountriesTaiwan
Recruiting
Who can join AIPeople aged 5–85 with a clinical diagnosis of Fabry disease.
What is being studied AICollects clinical outcomes and biomarker data (Gb3 and lysoGb3) from people with Fabry disease.
Study typeRegistry
CountriesCanada
Recruiting
Who can join AIPeople with a confirmed diagnosis of Fabry disease.
What is being studied AICollects long-term clinical and pregnancy outcome data in people with Fabry disease.
Study typeRegistry
CountriesArgentina, Australia, Belgium +41
Not yet recruiting
Who can join AIAdults with Fabry disease.
What is being studied AIUses FAPI PET imaging, myocardial proteomics, and blood microRNA to study cardiac fibrosis and remodeling.
Study typeRegistry
CountriesNot posted yet